European Genome-phenome Archive

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EGAS00001000170

Study Description

We propose to definitively characterise the somatic genetics of 20 breast cancers through generation of comprehensive catalogues of somatic... Show More

We propose to definitively characterise the somatic genetics of 20 breast cancers through generation of comprehensive catalogues of somatic mutations by high coverage genome sequencing coupled with integrated transcriptomic data.

EGAS00001000170

Study Accession

Alternative Stable ID

type

EGAS00001000170

Cancer Genomics

This study includes 6 datasets:

Click on a Dataset Accession in the table below to learn more, and to find out who to contact about access to these data

The expression data for this study can be found here:
http://www.ebi.ac.uk/arrayexpress/experiments/E-MTAB-1088/
and its SNP6 data can be found here:
http://www.ebi.ac.uk/arrayexpress/experiments/E-MTAB-1087/

We propose to definitively characterise the somatic genetics of breast cancer through generation of comprehensive catalogues of somatic mutations in breast cancer cases by high coverage genome sequencing coupled with integrated transcriptomic and methylation analyses.

We propose to definitively characterise the somatic genetics of breast cancer through generation of comprehensive catalogues of somatic mutations in breast cancer cases by high coverage genome sequencing coupled with integrated transcriptomic and methylation analyses.

Recurrent breast cancer is almost universally fatal. We characterize 170 patients locally relapsed or distant metastatic cancers using massively parallel sequencing. We identify that the relapse-seeding clone disseminates late from the primary tumor. TP53 and AKT1 appear to be enriched in ER-positive cancers predisposed to relapse. Mutation acquisition continues at relapse as the same mutation signatures continue to operate and new signatures, such as that caused by radiotherapy appear de novo. In 49% of cases we identify drivers mutations private to the relapse and these are sampled from a wider range of cancer genes, including SWI-SNF complex and JAK-STAT signaling.